|
rs1057519837
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Of interest, mutation analyses revealed the presence of an identical point mutation, c.98C>G, in exon 3 of β-catenin (CTNNB1) in both tumors.
|
21881488 |
2011 |
|
rs121913412
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Additional adjustment for tumor size yielded a P-value of 0.082 with hazard ratio's of 0.83 [95% confidence interval (CI) 0.48-1.42), 0.37 (95% CI 0.12-1.14), and 0.44 (95% CI 0.21-0.92) for T41A, S45P and WT DTF tumors compared to S45F DTF tumors.
|
31804402 |
2019 |
|
rs121913412
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Furthermore, analysis of beta-catenin gene revealed that the tumor had a typical missense mutation of threonine to alanine at colon 41 (T41A) in exon 3.
|
26907785 |
2016 |
|
rs121913412
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The tumor carried a heterozygous p.T41A mutation in CTNNB1.
|
27213811 |
2016 |
|
rs121913412
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Tumor DNA analysis revealed a heterozygous ACC-to-GCC missense mutation in codon 41 (T41A) and a TCT-to-CCT missense mutation in codon 45 (S45P) of exon 3 of the beta-catenin gene that was confirmed at the cDNA level.
|
18419788 |
2008 |
|
rs121913412
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Molecular analysis of microdissected cells from the left tumour revealed the same S45P CTNNB1 mutation in blastema, tubuli, stroma and muscle, and a different CTNNB1 mutation (T41A) in stromal cells isolated from another area of the same slide.
|
17551084 |
2007 |
|
rs121913412
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Five carcinomas showed beta-catenin mutations (S37C, T41I, T41A), including 4 (33%) of 12 endometrioid-type tumors and 1 (14%) of 7 mucinous-type tumors.
|
10391090 |
1999 |
|
rs121913412
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Heterozygous substitution mutations at codon 37 in two cases (S37F and S37C) and at codon 41 in one case (T41A) were found in three endometrioid lesions (one borderline tumor and two carcinomas) with abnormal beta-catenin expression.
|
9537226 |
1998 |
|
rs121913407
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Additional adjustment for tumor size yielded a P-value of 0.082 with hazard ratio's of 0.83 [95% confidence interval (CI) 0.48-1.42), 0.37 (95% CI 0.12-1.14), and 0.44 (95% CI 0.21-0.92) for T41A, S45P and WT DTF tumors compared to S45F DTF tumors.
|
31804402 |
2019 |
|
rs121913409
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Finally, using a previously reported 16-gene signature, it was shown that YAP1-ΔN90-β-catenin HB tumors exhibited genetic similarities with more proliferative, less differentiated, GS-negative HB patient tumors, whereas YAP1-S33Y/S45Y-β-catenin HB exhibited heterogeneity and clustered with both well-differentiated GS-positive and proliferative GS-negative patient tumors.
|
30794807 |
2019 |
|
rs121913409
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Additional adjustment for tumor size yielded a P-value of 0.082 with hazard ratio's of 0.83 [95% confidence interval (CI) 0.48-1.42), 0.37 (95% CI 0.12-1.14), and 0.44 (95% CI 0.21-0.92) for T41A, S45P and WT DTF tumors compared to S45F DTF tumors.
|
31804402 |
2019 |
|
rs121913409
|
|
|
0.050 |
GeneticVariation |
BEFREE |
This study examines whether the different CTNNB1 mutants (T41A, S45F) occurring in DTF tumors differentially affect Wnt signaling activity, which might explain the different disease course between DTF patients harboring different CTNNB1 mutations.
|
30528042 |
2019 |
|
rs121913409
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Four APAs showed a predominant (≥50%) zona fasciculata-like cell pattern: one tumor had CYP11B1 H-score = 150, no detectable CYP11B2 expression, and harbored a PRKACA p.Leu206Arg mutation (that we have reported previously elsewhere), one had no CYP11B1 expression, CYP11B2 H-score = 40, and no mutations; the remaining two adenomas had high CYP11B1 H-score (160 and 240, respectively) and low CYP11B2 H-score (30 and 15, respectively), with the latter harboring a CTNNB1 p.Ser45Phe activating mutation.
|
28405879 |
2017 |
|
rs121913407
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Tumor DNA analysis revealed a heterozygous ACC-to-GCC missense mutation in codon 41 (T41A) and a TCT-to-CCT missense mutation in codon 45 (S45P) of exon 3 of the beta-catenin gene that was confirmed at the cDNA level.
|
18419788 |
2008 |
|
rs121913407
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Molecular analysis of microdissected cells from the left tumour revealed the same S45P CTNNB1 mutation in blastema, tubuli, stroma and muscle, and a different CTNNB1 mutation (T41A) in stromal cells isolated from another area of the same slide.
|
17551084 |
2007 |
|
rs121913407
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Other three mutations were detected in three of five multiple tumors developed in the bilateral WT patient; a mutation of Delta45 in one of two tumors in the right kidney, and Ser45Cys (TCT --> TGT) and Ser45Pro (TCT --> CCT) in two of three tumors in the left kidney.
|
12239584 |
2002 |
|
rs121913409
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Other three mutations were detected in three of five multiple tumors developed in the bilateral WT patient; a mutation of Delta45 in one of two tumors in the right kidney, and Ser45Cys (TCT --> TGT) and Ser45Pro (TCT --> CCT) in two of three tumors in the left kidney.
|
12239584 |
2002 |
|
rs121913407
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Nuclear and/or cytoplasmic localization of beta-catenin, a potential indicator of wnt pathway activation, was seen focally within roughly one third of the tumors, though a clonal somatic mutation in beta-catenin was found in only one case (codon 45 Ser-->Pro).
|
10027390 |
1999 |
|
rs121913400
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Because heterogeneity in downstream signaling is being identified owing to mutational differences even in the β-catenin gene alone, we investigated if co-expression of point mutants of β-catenin (S33Y or S45Y) with S127A-YAP1 led to similar tumors as YAP1-ΔN90-β-catenin.
|
30794807 |
2019 |
|
rs121913400
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In further support for the driving role of β-catenin during hepatocarcinogenesis, improved colony growth in soft agar and accelerated tumor formation was also confirmed in Huh7 cells following stable expression of the constitutively active S33Y β-catenin mutant.
|
21807967 |
2011 |
|
rs121913400
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Of interest, mutation analyses revealed the presence of an identical point mutation, c.98C>G, in exon 3 of β-catenin (CTNNB1) in both tumors.
|
21881488 |
2011 |
|
rs1233296947
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Inhibition of glucosylceramide synthase with d-threo-1-phenyl-2-decanoylamino-3-morpholino-1-propanol (PDMP) sensitized p53-R273H cancer cells and tumor xenografts to doxorubicin treatments.
|
27517620 |
2016 |
|
rs3864004
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In multivariate Cox regression analysis, absence of CTNNB1 haplotype A-A at rs3864004 and rs4135385 positions and advanced tumor stage were independent poor predictors of patient survival in patients with HCC.
|
26968103 |
2016 |
|
rs4135385
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In multivariate Cox regression analysis, absence of CTNNB1 haplotype A-A at rs3864004 and rs4135385 positions and advanced tumor stage were independent poor predictors of patient survival in patients with HCC.
|
26968103 |
2016 |
|
rs121913413
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Five carcinomas showed beta-catenin mutations (S37C, T41I, T41A), including 4 (33%) of 12 endometrioid-type tumors and 1 (14%) of 7 mucinous-type tumors.
|
10391090 |
1999 |